Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.R105H
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SLC2A10

NM_030777.4:p.R105H

Associated Papers

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).

Salamat B et al.

American Journal of Medical Genetics. Part A, 2025

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Chen MH et al.

Journal of the American Heart Association, 2024

38958128 (PubMed )
Supplement: JAH3-13-e033232-s001.pdf

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Al-Blushi S et al.

Cureus, 2022

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS et al.

Ophthalmic Genetics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."